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Chromosomenaberrationen

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Zusammenfassung

Man geht davon aus, daß bei mindestens 8% aller Konzeptionen eine Chromosomenanomalie vorliegt. Der größte Teil dieser Embryonen bzw. Feten wird spontan abortiert. Bei etwa 60% der Spontanaborte im 1. Trimenon und 5% der späteren Spontanaborte ist eine Chromosomenstörung die Ursache (Tabelle 3.1). Von allen lebend geborenen Kindern weisen ca. 0,5% Chromosomenaberrationen auf (Müller 1989).

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Literatur

  • Boué A (1979) Structural chromosome aberrations in the parents. European collaborative study on structural chromosome anomalies (group report). Proceedings of the 3rd European Conference on Prenatal Diagnosis, Munich, April 12–14, 1978

    Google Scholar 

  • Boué A, Gallano P (1984) A collaborative study of the segregation of inherited chromosomal structural rearrangements in 1356 prenatal diagnosis. Prenatal Diagn 4:46–67

    Article  Google Scholar 

  • Clemens M, Martsolf JT, Rogers JG et al. (1996) Pitt-Rogers-Dank-syndrome: The result of a 4p microdeletion. Am J Med Genet 60:95–100

    Article  Google Scholar 

  • Connor JM, Ferguson-Smith MA (1993) Essential medical genetics. Blackwell, Oxford

    Google Scholar 

  • DeGrouchy J, Turleau C (1984) Clinical atlas of human chromosomes, 2nd edn. Wiley, Chichester

    Google Scholar 

  • Ferguson-Smith MA, Yates JRW (1984) Maternal age-specific rates for chromosome aberrations and factors influencing them. Report of a collaborative European study on 52965 amniocenteses. Prenatal Diagn 4:5–44

    Article  Google Scholar 

  • Fryns JP (1995) Syndrome of proximal interstitial deletion 4p15. Am J Med Genet 58:295–296

    Article  PubMed  CAS  Google Scholar 

  • Gardner RJM, Sutherland GR (1996) Chromosome abnormalities and genetic counselling. Oxford University Press

    Google Scholar 

  • Harper PS (1993) Practical genetic counseling, 4th edn. Butterworth-Heinemann, Oxford

    Google Scholar 

  • Hook EB (1994) Down’s syndrome epidemiology and biochemical screening. In: Grudzinskas JG, Chard T, Chapman M, Cuckle H (eds) Screening for Down’s syndrome. Cambridge University Press, pp 1–18

    Google Scholar 

  • Hook EB, Cross PK, Jackson L et al. (1988) Maternal age-specific rates of 47,+21 and other cytogenetic abnormalities diagnosed in the first trimester of pregnancy in chorionic villus biopsy specimens: comparison with rates expected from observations at amniocentesis. Am J Hum Genet 42:797–807

    PubMed  CAS  Google Scholar 

  • Jacobs PA, Brown C, Gregson N et al. (1992) Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. A review of the results of over 14.000 prenatal diagnoses with estimates of the incidence of chromosome abnormalities in term infants. J Med Genet 29:103–108

    Article  PubMed  CAS  Google Scholar 

  • Lubs HA (1969) A marker X chromosome. Am J Hum Genet 21:231–244

    PubMed  CAS  Google Scholar 

  • Mueller RE, Young ID (eds) (1995) Emery’s elements of medical genetics. Churchill Livingstone, Edinburgh

    Google Scholar 

  • Müller HJ (1989) Humangenetische Diagnostik. In: Bachmann K, Ewerbeck H, Kleihauer E et al. (Hrsg) Pädiatrie in Praxis and Klinik. Thieme, Stuttgart

    Google Scholar 

  • Müller U, Graeber MB (1996) Neurogenetic disease: Molecular diagnosis and therapeutic approaches. J Mol Med 74:71–84

    Article  PubMed  Google Scholar 

  • Murken J, Cleve H (1996) Humangenetik, 6. Aufl. Enke, Stuttgart

    Google Scholar 

  • Raeymaekers P, Timmerman K, Neline E et al. (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth disease type Ia (CMT1a). Neuromusc Disord 1:93–97

    Article  PubMed  CAS  Google Scholar 

  • Rao E, Eiweiss B, Fukami M et al. (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner’s syndrome. Nature Gen 16:54–63

    Article  CAS  Google Scholar 

  • Rimoin DL, Connor JM, Pyeritz RE (eds) (1997) Emery and Rimoin’s principles and practice of medical genetics, 3rd edn. Churchill Livingstone, Edinburgh

    Google Scholar 

  • Schinzel A (1994) Human cytogenetics database. Oxford University Press

    Google Scholar 

  • Schroeder TM, Anschutz F, Knopp A et al. (1964) Spontane Chromosomenaberrationen bei familiärer Panmyelopathie. Hum Genet 1:194–196

    Article  CAS  Google Scholar 

  • Scriver CR, Beaudet AL, Slyw S, Valle D (1995) The metabolic and molecular basis in inherited disease, 7th edn. McGraw-Hill, New York

    Google Scholar 

  • Schachenmann G, Schmid W, Fraccaro M et al. (1965) Chromosomes in coloboma and anal atresia. Lancet II:290

    Article  Google Scholar 

  • Stengel-Rutkowski S, Schimanek P (1985) Chromosomale and nicht chromosomale Dysmorphiesyndrome. Enke, Stuttgart

    Google Scholar 

  • Vogel F, Motulsky AG (1996) Human genetics, problems and approaches, 3nd edn. Springer, Berlin Heidelberg New York Tokyo

    Google Scholar 

  • Vogt P, Edelmann A, Kirsch S et al. (1996) Human Y-chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Gen 5:933–943

    Article  PubMed  CAS  Google Scholar 

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© 1999 Springer-Verlag Berlin Heidelberg

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Tariverdian, G., Paul, M. (1999). Chromosomenaberrationen. In: Genetische Diagnostik in Geburtshilfe und Gynäkologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-58453-4_3

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  • DOI: https://doi.org/10.1007/978-3-642-58453-4_3

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-63600-4

  • Online ISBN: 978-3-642-58453-4

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